Pompe disease is an autosomal recessive disorder caused by partial or complete deficiency of acid alpha-glucosidase (GAA), an enzyme involved in the breakdown of glycogen into simple sugars. Mutations in the gene coding for GAA, prevent enzymatic activity of α-glucosidase, which results in toxic build up of polysaccharide inside lysosomes, and leads to damage and debilitation of organs and tissues, primarily skeletal and cardiac muscles. Individuals with both copies of the altered gene are diagnosed with the disease, while individuals with only one copy of the mutated gene are considered carriers and remain asymptomatic throughout their lifespan.
Three categories of Pompe disease have been identified depending in the severity of the mutation, …show more content…
The first and most accurate indicator of the disease is the partial or complete loss of activity of acid alpha-glucosidase enzyme in cultured connective tissue obtained from skin or muscle biopsy. In order to confirm prognosis, laboratory analysis on enzyme activity are necessary, and these comprise serum creatine kinase (CK), aspartate aminotransferase (AST), alanine aminotransferase (ALT), or lactate dehydrogenase (LDH), among other; elevated levels of these enzymes reaffirm presence of GAA mutation and diagnosis of Pompe disease. Once diagnosis is confirmed, additional test are performed to assess extend of disease and damage of tissues and organs, which include breathing tests to measure lung capacity, electromyography to measure muscle function, and chest x-rays to assess the size of the …show more content…
Additional supportive therapies include respiratory support for patients with respiratory insuffiecy and failure, physical therapy to improve strength and physical ability, orthopedic devices to aid movement in patients with compromised spinal cord and extremities, and in some cases surgery in order to fix contractures or spinal deformity. Furthermore, gene therapy has been very successful in directly restoring acid a-glucosidase production and activity in crucial tissues like the diaphragm in order to improve respiratory
Three categories of Pompe disease have been identified depending in the severity of the mutation, …show more content…
The first and most accurate indicator of the disease is the partial or complete loss of activity of acid alpha-glucosidase enzyme in cultured connective tissue obtained from skin or muscle biopsy. In order to confirm prognosis, laboratory analysis on enzyme activity are necessary, and these comprise serum creatine kinase (CK), aspartate aminotransferase (AST), alanine aminotransferase (ALT), or lactate dehydrogenase (LDH), among other; elevated levels of these enzymes reaffirm presence of GAA mutation and diagnosis of Pompe disease. Once diagnosis is confirmed, additional test are performed to assess extend of disease and damage of tissues and organs, which include breathing tests to measure lung capacity, electromyography to measure muscle function, and chest x-rays to assess the size of the …show more content…
Additional supportive therapies include respiratory support for patients with respiratory insuffiecy and failure, physical therapy to improve strength and physical ability, orthopedic devices to aid movement in patients with compromised spinal cord and extremities, and in some cases surgery in order to fix contractures or spinal deformity. Furthermore, gene therapy has been very successful in directly restoring acid a-glucosidase production and activity in crucial tissues like the diaphragm in order to improve respiratory